H4C5 Chromosome 6
H4 clustered histone 5
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What This Gene Does
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
"H4 histones|Proteins encoded by multiple genes"
Locus Type
gene with protein product
Location
6p22.2
Ensembl
ENSG00000276966
Associated Conditions (3)
See cases
Tessadori-Van Haaften neurodevelopmental syndrome 3
H4C5-related disorder
Key Variants
RS950721550
Conflicting classifications of pathogenicity
See cases, Tessadori-Van Haaften neurodevelopmental syndrome 3, See cases
Health Risk
RS1765191304
Likely pathogenic
Tessadori-Van Haaften neurodevelopmental syndrome 3, Tessadori-Van Haaften neurodevelopmental syndrome 3
Health Risk
RS2480785279
Likely pathogenic
H4C5-related disorder, H4C5-related disorder
Health Risk
RS753083420
Likely pathogenic
Health Risk
RS2480784692
Pathogenic
Tessadori-Van Haaften neurodevelopmental syndrome 3, Tessadori-Van Haaften neurodevelopmental syndrome 3
Health Risk
RS2480784697
Pathogenic
Tessadori-Van Haaften neurodevelopmental syndrome 3, Tessadori-Van Haaften neurodevelopmental syndrome 3
Health Risk
RS2480784824
Pathogenic
Tessadori-Van Haaften neurodevelopmental syndrome 3, Tessadori-Van Haaften neurodevelopmental syndrome 3
Health Risk
RS2480785483
Pathogenic/Likely pathogenic
Tessadori-Van Haaften neurodevelopmental syndrome 3, Tessadori-Van Haaften neurodevelopmental syndrome 3
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS950721550 | Health Risk | Conflicting classifications of pathogenicity | See cases, Tessadori-Van Haaften neurodevelopmental syndrome 3, See cases |
| RS1765191304 | Health Risk | Likely pathogenic | Tessadori-Van Haaften neurodevelopmental syndrome 3, Tessadori-Van Haaften neurodevelopmental syndrome 3 |
| RS2480785279 | Health Risk | Likely pathogenic | H4C5-related disorder, H4C5-related disorder |
| RS753083420 | Health Risk | Likely pathogenic | — |
| RS2480784692 | Health Risk | Pathogenic | Tessadori-Van Haaften neurodevelopmental syndrome 3, Tessadori-Van Haaften neurodevelopmental syndrome 3 |
| RS2480784697 | Health Risk | Pathogenic | Tessadori-Van Haaften neurodevelopmental syndrome 3, Tessadori-Van Haaften neurodevelopmental syndrome 3 |
| RS2480784824 | Health Risk | Pathogenic | Tessadori-Van Haaften neurodevelopmental syndrome 3, Tessadori-Van Haaften neurodevelopmental syndrome 3 |
| RS2480785483 | Health Risk | Pathogenic/Likely pathogenic | Tessadori-Van Haaften neurodevelopmental syndrome 3, Tessadori-Van Haaften neurodevelopmental syndrome 3 |